Canonical Allele Identifier: CA370052712
Gene: RHEB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151490994G>C , CM000669.2:g.151490994G>C GRCh38
NC_000007.13:g.151188080G>C , CM000669.1:g.151188080G>C GRCh37
NC_000007.12:g.150819013G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262187.10:c.73C>G MANE Select ENSP00000262187.5:p.Gln25Glu
ENST00000262187.9:c.73C>G ENSP00000262187.5:p.Gln25Glu
ENST00000470370.1:c.-243C>G ENSP00000417212.1:n.-243C>G
ENST00000472642.5:c.-243C>G ENSP00000420726.1:n.-243C>G
ENST00000478470.5:c.*21C>G ENSP00000417802.1:n.*21C>G
ENST00000496004.5:c.-243C>G ENSP00000418161.1:n.-243C>G
NM_005614.3:c.73C>G NP_005605.1:p.Gln25Glu
XM_011516457.1:c.40C>G XP_011514759.1:p.Gln14Glu
XM_011516457.2:c.40C>G XP_011514759.1:p.Gln14Glu
XM_024446854.1:c.40C>G XP_024302622.1:p.Gln14Glu
NM_005614.4:c.73C>G MANE Select NP_005605.1:p.Gln25Glu